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immunodeficiency 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 23

MONDO:0014353

Also known as:CID due to PGM3 deficiencyIMD23PGM3-CDG

Overview

GeneticsAutosomal recessive · PGM3 (chr 6)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Global developmental delay, Recurrent Staphylococcus aureus infections, Eczematoid dermatitis, and Recurrent respiratory infections and others; and common findings: Increased circulating IgE concentration, Persistent EBV viremia, Increased circulating IgM level, and Low muscle tone (hypotonia) and others. 87 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	18

Genetic Landscape

PGM3 function has not been fully characterized.

Immunodeficiency 23 is caused by mutations in the PGM3 gene on chromosome 6.

Diagnosis

Genetic testing for PGM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 23 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 29 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for immunodeficiency 23.

304 publications have been identified in PubMed for immunodeficiency 23. Kisho has analyzed 102 by research type. Research spans Epidemiology / Natural History (32%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Disease patterns and progression	33	32%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:216920 OMIM:615816

Orphanet

European rare disease database

Orphanet:443811

GARD

Genetic and Rare Diseases Info Center

GARD:4331

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

immunodeficiency 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications